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المؤلفون: S. Lausdahl, M. M. Handrup, S. L. Rubak, M. D. Jensen, C. Ejerskov
المصدر: Lausdahl, S, Handrup, M M, Rubak, S L, Jensen, M D & Ejerskov, C 2022, ' Transition to adult care of young patients with neurofibromatosis type 1 and cognitive deficits : a single-centre study ', Orphanet Journal of Rare Diseases, vol. 17, no. 1, 208 . https://doi.org/10.1186/s13023-022-02356-zTest
مصطلحات موضوعية: Adult, Transition to Adult Care, Neurofibromatosis 1, Adolescent, Cognitive deficits, General Medicine, Psychiatric comorbidities, Young Adult, Cognition, Transition, Humans, Pharmacology (medical), Cognition Disorders, Genetics (clinical), Neurofibromatosis type 1, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92793b84fc44a1b1c8529e85a8e7ba5fTest
https://doi.org/10.1186/s13023-022-02356-zTest -
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المؤلفون: Jean-Marc Grégoire, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Anne-Marie Schmitt, Marlene Guiraud, Pierre Wolkenstein, Ignacio Blanco, Isabelle Rauly-Lestienne
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Quality of life, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Adolescent, Future medication, lcsh:Medicine, Social burden, Social life, 03 medical and health sciences, Laser treatments, Young Adult, 0302 clinical medicine, Surveys and Questionnaires, Medicine, Humans, Pharmacology (medical), European Union, Community survey, Genetics (clinical), Aged, Motivation, Neurofibroma, Health professionals, business.industry, Research, lcsh:R, Cutaneous neurofibromas, General Medicine, Middle Aged, Therapeutic modalities, Patient community survey, Real-world experience, Mood, Current management, 030220 oncology & carcinogenesis, Female, business, 030217 neurology & neurosurgery, Neurofibromatosis type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fbb1b2f09041fe797f753b1d30011d0Test
https://doaj.org/article/d66d2cf1a4c74bed92a3ce2b1f743acbTest -
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المؤلفون: Yuan Zhao, Jie Yu, Yiwen Liu, Lu Lyu, Fan Ping, Lingling Xu, Wei Li, Ou Wang, Qiang Xu, Wenming Wu, Huabing Zhang, Yuxiu Li
المصدر: Orphanet journal of rare diseases. 17(1)
مصطلحات موضوعية: Adult, Male, Insulins, General Medicine, Hypoglycemia, Pancreatic Neoplasms, Young Adult, Multiple Endocrine Neoplasia Type 1, Humans, Neuroectodermal Tumors, Primitive, Pharmacology (medical), Female, Insulinoma, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::898d6b3c9b782953586f45f31e4af4aeTest
https://pubmed.ncbi.nlm.nih.gov/35698198Test -
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المؤلفون: Eshwar Thota, John Jims Veeravalli, Sai Krishna Manchala, Bhargavi Priya Lakkepuram, Jayasurya Kodapaneni, Yi-Wen Chen, Li-Tzu Wang, Kevin Sheng-Kai Ma
المصدر: Orphanet journal of rare diseases. 17(1)
مصطلحات موضوعية: Adult, Young Adult, Neurofibromatosis 1, Case-Control Studies, Amylases, Prevalence, Humans, Pharmacology (medical), General Medicine, Dental Caries, Genetics (clinical), Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57183cc192f5fcbdd3ca882895c685d8Test
https://pubmed.ncbi.nlm.nih.gov/35236379Test -
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المؤلفون: de Vries, Petrus J, Jansen, Anna C
المساهمون: Rask, Olof, Creator
المصدر: Orphanet Journal of Rare Diseases. 13(1):157-157
مصطلحات موضوعية: Adolescent, Adult, Anxiety Disorders/genetics, Attention Deficit Disorder with Hyperactivity/genetics, Autism Spectrum Disorder/genetics, Child, Preschool, Depressive Disorder/genetics, Female, Genotype, Humans, Intellectual Disability/genetics, Male, Mutation/genetics, Neuropsychological Tests, Tuberous Sclerosis/genetics, Tuberous Sclerosis Complex 1 Protein/genetics, Tuberous Sclerosis Complex 2 Protein/genetics, Young Adult, Medicin och hälsovetenskap, Klinisk medicin, Psykiatri, Medical and Health Sciences, Clinical Medicine, Psychiatry
الوصول الحر: https://lup.lub.lu.se/record/08698f6c-b2aa-4650-ada4-ed86c9a2120fTest
http://dx.doi.org/10.1186/s13023-018-0901-8Test -
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المؤلفون: Yan Jiang, Xiaoping Xing, Mei Li, Ou Wang, Weibo Xia, Min Nie, Yabing Wang
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, medicine.medical_specialty, Asplenia, Adolescent, Hypoparathyroidism, Pure red cell aplasia, 030209 endocrinology & metabolism, Autoimmune hepatitis, Renal tubular acidosis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Pharmacology (medical), Chronic mucocutaneous candidiasis, Polyendocrinopathies, Autoimmune, Genetics (clinical), Ankylosing spondylitis, Chinese, business.industry, Research, General Medicine, AIRE gene, medicine.disease, Dermatology, Phenotype, 030104 developmental biology, Autoimmune polyendocrine syndrome type 1, Mutation, Medicine, Female, business, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad3596cd11ce894f782c1eff80849389Test
https://doi.org/10.1186/s13023-021-01933-yTest -
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المؤلفون: Domingo González-Lamuño, María L. Couce, Fernando Andrade, Paula Sánchez-Pintos, Luis Aldámiz-Echevarría
المساهمون: Universidad de Cantabria
المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases (2021) 16:256
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Nitisinone, Treatment adherence, Phenylalanine, Disease, Tyrosinemia, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Refractory, Internal medicine, Tyrosinemia type 1, Humans, Medicine, Pharmacology (medical), 030212 general & internal medicine, Medical prescription, Child, Genetics (clinical), Cyclohexanones, Tyrosinemias, business.industry, Research, Infant, General Medicine, Prognosis, medicine.disease, Diet, Treatment Adherence and Compliance, Succinylacetone, Adherence, Child, Preschool, Nitrobenzoates, Tyrosine, Observational study, business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3589a59d4251a202c992ab7c5a2982Test
https://doi.org/10.1186/s13023-021-01879Test-1 -
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المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Craniofacial alteration, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Mandibular canal, Periapical cemental dysplasia, lcsh:Medicine, Review, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Speech, Humans, Pharmacology (medical), In patient, Oral soft tissue, Tooth Developoment, Neurofibromatosis, Craniofacial, Child, Periapical Cemental dysplasia, Genetics (clinical), Aged, Dental age, business.industry, Periapical Diseases, Skull, lcsh:R, Mandible, Wide Mandibular Canal, 030206 dentistry, General Medicine, Middle Aged, University hospital, medicine.disease, Dermatology, medicine.anatomical_structure, Female, Abnormality, Mouth Diseases, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9de14b95de6f8b77e0f8dbdc052cf0Test
http://link.springer.com/article/10.1186/s13023-018-0881-8Test -
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المؤلفون: María Teresa Martínez-Menchon, Guillermo Glover-López, E. Guillén-Navarro, María José Sánchez-Soler, María Barreda-Sánchez, Lidya Rodriguez-Peña, Maria del Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, Paloma Sánchez-Pedreño, Ana Teresa Serrano-Antón, J.F. Frias-Iniesta, Pablo Carbonell-Meseguer
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, lcsh:Medicine, Biology, Edar-Associated Death Domain Protein, Non-syndromic tooth agenesis, Young Adult, symbols.namesake, Ectodermal Dysplasia, Ectodermal derivative impairment, hypohidrotic ectodermal dysplasia, medicine, Humans, Pharmacology (medical), Hypohidrotic ectodermal dysplasia, Multiplex ligation-dependent probe amplification, Allele, Child, Gene, Genetics (clinical), Anodontia, Genetics, Sanger sequencing, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, Edar Receptor, Research, Hypodontia, lcsh:R, Infant, Newborn, Infant, Exons, General Medicine, Middle Aged, EDAR, medicine.disease, Introns, Human genetics, Wnt Proteins, WNT10A, Spain, Child, Preschool, symbols, Female, Ectodysplasin A, EDA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c243be7260d6602d520dfebd84b42ca9Test
https://doi.org/10.1186/s13023-019-1251-xTest -
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المؤلفون: Ana Caroline Siquara de Sousa, Deuilton do Nascimento Barboza, Paula Nascimento Almeida, Maria Eugenia Leite Duarte, Eloá Borges Luna, Maria Clara de Macena Correia, Maria Isabel D. Rossi, Karin Soares Gonçalves Cunha, Rhayra B. Dias
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Cellular differentiation, lcsh:Medicine, Matrix (biology), Extracellular matrix, Cell therapy, 03 medical and health sciences, Young Adult, 0302 clinical medicine, stomatognathic system, Dental pulp stem cells, Cell differentiation, Humans, Pharmacology (medical), CD90, neoplasms, Genetics (clinical), Cells, Cultured, Dental Pulp, Adipogenesis, Chemistry, Research, Stem Cells, lcsh:R, 030206 dentistry, General Medicine, Chondrogenesis, Cell biology, nervous system diseases, 030104 developmental biology, Female, Cell culture, Multipotentiality
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a543d0eea73dcda77709fe084a9f36cTest
http://link.springer.com/article/10.1186/s13023-018-0843Test-1